Showing 81 - 100 results of 365 for search '"Mutation"', query time: 0.06s Refine Results
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  11. 91

    Widespread mutagenesis and chromosomal instability shape somatic genomes in systemic sclerosis by Sriram Vijayraghavan, Thomas Blouin, James McCollum, Latarsha Porcher, François Virard, Jiri Zavadil, Carol Feghali-Bostwick, Natalie Saini

    Published 2024-10-01
    “…In the genomes of patients with systemic sclerosis, we find evidence of somatic hypermutation or kategis (typically only seen in cancer genomes), we identify mutation signatures closely resembling the error-prone translesion polymerase Polη activity, and observe an activation-induced deaminase-like mutation signature, which overlaps with genomic regions displaying kataegis.…”
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  12. 92

    The RNA-binding protein Puf5 and the HMGB protein Ixr1 regulate cell cycle-specific expression of CLB1 and CLB2 in Saccharomyces cerevisiae. by Megumi Sato, Varsha Rana, Yasuyuki Suda, Tomoaki Mizuno, Kenji Irie

    Published 2025-01-01
    “…The decreased expression of CLB1 by the puf5Δ mutation caused a severe growth defect of the puf5Δ clb2Δ double mutant. …”
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  13. 93

    Real-world data of dacomitinib as first-line treatment for patients with EGFR-mutant non-small-cell lung cancer by Ji Eun Shin, Hyun Ae Jung, Sehhoon Park, Jong-Mu Sun, Se-Hoon Lee, Jin Seok Ahn, Myung-Ju Ahn, Byoung Yong Shim

    Published 2025-02-01
    “…Based on the type of EGFR mutation, the median PFS was 18.1 months (95% CI, 14.5 to NE) in patients with exon 19 deletion, and 15.9 months (95% CI, 12.5 to NE) in patients with L858R mutation. …”
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  14. 94

    Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study by Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare

    Published 2025-02-01
    “…This mutation affected the interaction with cofactor pyridoxal 5′-phosphate since the patient’s hemoglobin improved with oral administration of pyridoxine tablets. …”
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  15. 95

    Self-adaptive fuzzing optimization method based on distribution divergence by XU Hang, JI Jiangan, MA Zheyu, ZHANG Chao

    Published 2024-12-01
    “…The selection for the focused mutation block of a seed file was defined as an action, and the distribution divergence of the approximate distributions of the random fields before and after the action was defined as the reward. …”
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  16. 96

    Comparison of molecular analysis results determined by next-generation sequencing to immunohistochemical indicators and clinicopathological parameters in prostate adenocarcinomas by Merve Çırak Balta, İbrahim Halil Erdoğdu, Esin Oktay, Nil Çulhac

    Published 2024-04-01
    “…In all cases with a pathogenic mutation in the androgen receptor gene, a pathogenic mutation in the Protein Tyrosine Phosphatase and Tensin Homolog gene was also observed and a significant relationship was found between them. …”
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  17. 97

    Genetic characteristics of influenza A and B viruses circulating in Russia in 2019–2023 by Svetlana B. Yatsyshina, Anna A. Artamonova, Maria A. Elkina, Anna V. Valdokhina, Victoria P. Bulanenko, Aleksandra A. Berseneva, Vasily G. Akimkin

    Published 2024-12-01
    “…No oseltamivir and zanamivir resistance mutations in NA were detected in all tested influenza A(H3N2) and B viruses. …”
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  18. 98

    Faking the News: Intentional Guided Variation Reflects Cognitive Biases in Transmission Chains Without Recall by Stubbersfield Joseph, Tehrani Jamshid, Flynn Emma

    Published 2018-07-01
    “…Two potential forms of mutation in cultural evolution have been identified: ‘copying error’, where learners make random modifications to a behaviour and ‘guided variation’ where learners makes non-random modifications. …”
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  19. 99

    Impaired cognitive function and decreased monoamine neurotransmitters in the DNAJC12 gene knockout mouse model by Shunan Wang, Ming Shen, Bo Pang, Bo Zhou, Yuan Yuan, Mei Lu, Xiangling Deng, Min Yang, Shufang Liu, Qiong Wang, Mei Xue, Qisheng Xia, Zhixin Zhang

    Published 2025-02-01
    “…Methods We thoroughly examined the clinical features and genetic mutations evident in two patients with biallelic mutations in the DNAJC12 gene. …”
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  20. 100

    Inactivation of the CMAH gene and deficiency of Neu5Gc play a role in human brain evolution by Yuxin Liu, Jinhong Li, Qicai Liu

    Published 2025-02-01
    “…These missing genes might be the key to the evolution of humans’ unique cognitive skills. An inactivation mutation in CMP-N-acetylneuraminic acid hydroxylase (CMAH) was the result of natural selection. …”
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